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Case Report for Two Siblings Carrying Neurofibromatosis Type 1 with a Rare NF1: c.5392C>T Mutation

Neurofibromatosis type 1 (NF1) is a neurocutaneous syndrome caused by mutations on the NF1 gene, which is located at chromosome 17q11.2. Although an autosomal dominant inheritance pattern is well-established, about half of new cases are the result of de novo NF1 mutations. Neurofibromatosis type 1 h...

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Detalles Bibliográficos
Autores principales: Sayın Kocakap, DB, Gündüz, Ö, Özer, L, Durak, M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sciendo 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9524177/
https://www.ncbi.nlm.nih.gov/pubmed/36249525
http://dx.doi.org/10.2478/bjmg-2021-0021